Varaico: Literature-Extracted Genetic Variants

RBPJL

39 papers

RefSeq Summary

This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch re...

Pfam Domains

LAG1-DNAbindaa 69–206UCSCLAG1, DNA binding

BTDaa 234–359UCSCBeta-trefoil DNA-binding domain

TIG_SUHaa 385–475UCSCTIG domain

Gene Aliases

HGNC Name

recombination signal binding protein for immunoglobulin kappa J region like

HGNC Previous Symbol

RBPSUHL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014276.4

p.R265Q

c.794G>A

Surrounding Variants

1 paper

NM_014276.4

p.P264L

c.791C>T

1 paper

NM_014276.4

p.A253A

c.759T>C

1 paper

NM_014276.4

p.V278I

c.832G>A

2 papers

NM_014276.4

p.T280M

c.839C>T

1 paper

NM_014276.4

p.M289insFs

c.865_866ins13

1 paper

NM_014276.4

p.M289fs

c.865_866fs

1 paper

NM_014276.4

p.T228P

c.682A>C

1 paper

NM_014276.4

p.V226L

c.676G>C

1 paper

NM_014276.4

p.R222P

c.665G>C

1 paper

NM_014276.4

p.N219S

c.656A>G

1 paper

NM_014276.4

p.C208F

c.623G>T

1 paper

NM_014276.4

p.L207P

c.620T>C